ARTERYLASTIC : First real therapeutic hope

ARTERYLASTIC : First real therapeutic hope for vascular issue in Dominant Cutis Laxa.

 

ARTERYLASTIC derives from researches lead in Lyon (France) by Dr Romain Debret. Originating from the idea that if one can make prosthetics for a joint, maybe we could make prosthestics for a failing elastin, this project is funded by the French National Agency for Research. Selected in 2018, it will start in January 2019.

The project involves 3 laboratories from the Rhône-Alpes area: Laboratory for Tissue Biology and Therapeutic Engineering (National Center for Scientific Research, Lyon), Laboratory for Hypoxia and Cardiovascular and Respiratory Physiopathologies (National Institute of Health and Medical Research, Grenoble), and Sainbiose Laboratory (National Institute of Health and Medical Research, Saint-Etienne).

The main aim of the project is to develop a synthetic elastic protein as medicine agent to improve or restore the vascular elasticity when it is failing in genetic disorders such as Cutis Laxa and Williams Syndrome, but also in non syndromic pathologies such as sleeping apneia.

This project aims to analyse the way the synthetic protein is acting and evaluate its efficiency in pertinent biological models.

The « DHERMIC » project, which preceded ARTERYLASTIC, already provided a wide set of solid data regarding the skin for the synthetic elastic protein. Recent preliminary results regarding the integration in blood vessels walls in fishes and mice are very promising.

An important part of the work will also be dedicated to the pharmacological formulation and certification to allow for the implementation of Clinical Trials at the end of the project (late 2021).

Prevalence of Cutis Laxa

Orphanet has just issued the new figures of rare disorders prevalence (number of birth/ 100 000).

https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Below are the figures for Cutis Laxa (PN* means at birth in Europe).

Improving life journey for children suffering from rare disorders

The partnership signed, 3 years ago, between Fondation Groupama and Hospital Necker for Sick Children aimed to give families the means and necessary autonomy to build a real life journey for their children. The main aims of the project were :

  • To Identify the breaks in the child’s life journey and find answers and actionable levers to improve their quality of life;
  • To Increase awareness of the social issues raised by rare disorders ;
  • To Work out a specific method to promote families’ autonomy.

A group of 50 families with children aged between six months and 18 was thereby established and a portrait of the quality of life for families with a child suffering from a rare disorder was drawn. Based on this portrait, a method and new tools were created by social workers who support families of young patients suffering from rare disorders. Two main tools will help improve those children’s life journey :

  • A standardized conversation chart to harmonize practices and take into consideration the context, widely speaking, (environment, family situation, etc ) of the child’s and family’s life which will help anticipate the potential breaks in social support ;
  • A communication book which allowed the 55 families to coordinate the various healthcare providers caring for the child, identify important documents and become actors in their child’s global care.,.

According to the press release published earlier this year « new challenges will be taken up in 2018 so that the tools conceived and tested during these past three years  do not remain « Necker tools » but become national helps ».

(©orphanews 2018.01.25)

ERN-Skin

The specific European Reference Network concerning Cutis Laxa is of course included in theglobal ERNs results. Nevertheless some particular issues need to be pointed out :

  • The first training session was held in Helsinki in 2017. The second one will soon be held in Roma. These training sessions aim to train young healthcare professionals regarding specificity, difficulties, diagnostic and car for rare dermatologic disorders.
  • Conference calls are held regularly. They bring together professionals and patient representatives to work on established aims. Regarding the sub thematic group “Mendelian Connective Tissue Disorders” (MCTD), one of our first tasks will be to update the classification of the different types of Cutis Laxa.

A New Type of Cutis Laxa

In March, the American Journal of Medecine Genetics published an article showing that a mutation on the gene PTDSS1 leads to a very rare type of Cutis Laxa :  Lenz-Majewski Syndrome (LMS) . It includes Cutis Laxa with growth delay, dwarfism and intellectual delay. According to this study of 3 cases, this is a new type of Cutis Laxa that needs to be added to those already identified.

ERN logo

European Reference Networks (ERNs)

After a whole year of tangible work, we need to take stock of the ERNs :

  • Virtual Patient Care:

Since November 2017, ERNs now all have access to a dedicated Clinical Patient Management System (CPMS), through which are provided virtual, cross-expert and cross-border consultations for real patients whose cases warrant the pooling of knowledge across the ERN community. Virtual case review has been acknowledged as being the heart of the ERNs.

  • Data Integration and Interoperability:

This question of data interoperability and ‘linkability’ will be an important focus of five ERN-specific grants awarded last year through the European Public Health Programme. A Call had been launched, to provide ‘support for new registries’ based upon ERNs.

  • Financial Support for ERNs:

Importantly, the European Commission continues to provide non-competitive funding opportunities to all of the Networks, essential ERNs to operate. Very recently, the ERNs submitted applications for their second year of coordination funding, and the 2018 Public Health Programme has earemarked € 13.8 Million to ERNs for the next three years.

  • Governance Structures of the ERN Coordinators Group :

During 2017, the governance model of the 24 ERNs was developed to ensure collaboration and avoid duplication of efforts in many key areas of activity. The ERN Coordinators Group (ECG) was formed. Several workshops were organized, focusing on data sharing, research, ethics, cross border healthcare, guidelines or education.

  • RD-ACTION Support

Following the workshop on ERNs and Clinical Practice Guidelines, several documents (including Recommended Practices relating to Clinical Practice Guideline activities) are in preparation, through the partnership between the RD-ACTION organisers and the ERN Working Group on Guidelines, Education and Training in particular. Two more workshops of particular relevance to ERNs will be organised : one on Integrated, holistic care for rare disorders (via the INNOVCare project), and one on ERN added-value to clinical research. Meanwhile, the activities of EURORDIS continue to foster engagement of patients via the ePAGs (European Patient Advisory groups), which now number around 150.

  • Future Expansion of ERNs

An important topic for 2018 will be how to manage the expansion of the 24 ERNs, in terms of integrating new members and also agreeing how to bestow the status of ‘affiliated’ partners.  The ERNs’ goal is to recruit new members in a logical, strategic way, to ensure a comprehensive coverage of all rare conditions, and also to maximise geographical coverage by encouraging all eligible countries to participate.

(©orphanews 2018.01.31)

cmgg-Pr Bert CALLEWAERT

Research on Cutis Laxa in Europe

ERN-Skin’s aims are, among others, to improve patients’ follow-up and to help research. Within this framework, it is essential that patients, as well as doctors concerned by Cutis Laxa, help research projects. No research can be done without everyone’s involvement.
If you wish to take part in research on Cutis Laxa in Europe, please get in touch with the coordinator concerned with Cutis Laxa :

Pr Bert CALLEWAERT Read more

Dr Pascal Sommer took part in CNRS forum

Dr Pascal Sommer took part in CNRS (French National Centre for Scientific Research) forum « What remains to be discovered ? ». Everyone knows that our organism will diminish with aging. Why do physiological systems progressively diminish with time ? Are we genetically programed to age ? What are the links between cancer, neurodegenerative disorders and aging ? Why do certain species age more quickly than others ?

If researchers are trying to better grasp the causes and consequences of aging, they are also developing solutions to study, protect, stimulate and even replace elastic fibers of viscoelastic components of our body.

You can listen (in French) to the whole discussion from this forum on  :

New mutations (ATP6V1E1, ATP6V1A)

ATP6V1E1 or ATP6V1A, are the new mutations recently published by a team of researchers including, among others, les nouvelles mutations publiées par une équipe de chercheurs incluant, entre autres, Mmes Gardeitchik, Mohammed, De Paepe, Malfait and Morava as well as Messrs Kornak, Wevers and Callewaert, who are researchers we are in contact with.
Those mutations can be included in Autosomal Recessive Cutis Laxa type 2 (ARCL2). They lead to Glycosylation Abnormalities (CDGs).

Petition ProRaris

ProRaris, Swiss Federation for Rare Disorders launched a petition for the Swiss authorities to do as much as they can to ease the participation to European Reference Networks for Swiss hospitals that are experts for rare disorders as well as for researchers who are active in this field. Over 450 people signed it.